P9S (p.Pro9Ser) variant of PKD2 (Polycystin-2)
P9S (p.Pro9Ser) in PKD2 (Polycystin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
P9S (p.Pro9Ser) variant details
- p.Pro9Ser
- gnomAD rs1322007122
- Missense
- Variant Prioritization Score for Impact Estimate 0.392
- REVEL 0.18
- CADD 23.80
- PolyPhen-2 0.86
- SIFT 0.00
- Population evidence available
- Structural context available